Variant report

Variant	rs639595
Chromosome Location	chr18:29407057-29407058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29406625..29408228-chr18:29410273..29412352,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10468902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1074636	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853415	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853416	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11081718	1.00[JPT][hapmap]
rs11081720	0.95[JPT][hapmap]
rs11081729	0.95[JPT][hapmap]
rs11660557	0.95[JPT][hapmap]
rs11662341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11662697	0.95[JPT][hapmap]
rs11877256	1.00[JPT][hapmap]
rs12604640	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12604691	0.95[JPT][hapmap]
rs12606882	1.00[JPT][hapmap]
rs12606962	1.00[JPT][hapmap]
rs12607426	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607786	0.95[JPT][hapmap]
rs12957331	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12969126	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1680643	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17741796	0.95[JPT][hapmap]
rs17742014	0.95[JPT][hapmap]
rs17742105	0.95[JPT][hapmap]
rs17804129	0.95[JPT][hapmap]
rs1786764	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1815822	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276144	0.95[JPT][hapmap]
rs35203717	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737374	1.00[JPT][hapmap]
rs3865397	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513172	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545895	0.95[JPT][hapmap]
rs5011500	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs521491	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs549818	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs563247	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6506944	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6506945	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6506946	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs675570	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7228817	0.95[JPT][hapmap]
rs7229979	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7230326	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7231114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7234341	1.00[JPT][hapmap]
rs7234798	1.00[JPT][hapmap]
rs7239098	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7239951	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8084869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8088396	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8094542	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs930018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9958368	0.81[EUR][1000 genomes]
rs9966530	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29399400-29407800	Weak transcription	Placenta	Placenta
3	chr18:29399600-29409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:29399800-29408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:29399800-29409400	Weak transcription	HSMMtube	muscle
6	chr18:29400200-29415600	Weak transcription	Brain Angular Gyrus	brain
7	chr18:29401000-29409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:29401600-29408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:29401800-29407400	Weak transcription	Fetal Intestine Small	intestine
10	chr18:29401800-29407800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:29401800-29409000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr18:29401800-29409400	Weak transcription	HUVEC	blood vessel
13	chr18:29402000-29408600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:29402000-29408600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:29402000-29408800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:29402000-29408800	Weak transcription	Left Ventricle	heart
17	chr18:29402000-29409200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:29402000-29409400	Weak transcription	Fetal Lung	lung
19	chr18:29402000-29415400	Weak transcription	Right Ventricle	heart
20	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:29402200-29408800	Weak transcription	Adipose Nuclei	Adipose
23	chr18:29402200-29408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:29402200-29408800	Weak transcription	Fetal Intestine Large	intestine
25	chr18:29402200-29409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:29402200-29409200	Weak transcription	HepG2	liver
27	chr18:29402200-29409400	Weak transcription	Gastric	stomach
28	chr18:29402200-29414600	Weak transcription	Fetal Heart	heart
29	chr18:29402200-29417200	Weak transcription	Pancreas	Pancrea
30	chr18:29402400-29408800	Weak transcription	K562	blood
31	chr18:29402400-29415400	Weak transcription	Ovary	ovary
32	chr18:29402800-29409400	Weak transcription	Lung	lung
33	chr18:29403600-29408800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:29403800-29409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:29404800-29407400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr18:29404800-29407400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr18:29405200-29413600	Weak transcription	Fetal Stomach	stomach
38	chr18:29405400-29407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:29405400-29408800	Weak transcription	Liver	Liver
40	chr18:29405400-29415200	Weak transcription	Small Intestine	intestine
41	chr18:29405600-29407200	Weak transcription	Primary T cells from cord blood	blood
42	chr18:29405600-29409400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr18:29405600-29412600	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:29405600-29414800	Weak transcription	NH-A	brain
45	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:29405800-29407400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:29405800-29407400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:29405800-29407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:29405800-29408800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:29406000-29408800	Weak transcription	Stomach Smooth Muscle	stomach

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